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人类A2a腺苷受体基因:ADORA2A的特征及染色体定位

Characterization and chromosomal localization of the human A2a adenosine receptor gene: ADORA2A.

作者信息

Le F, Townsend-Nicholson A, Baker E, Sutherland G R, Schofield P R

机构信息

Garvan Institute for Medical Research, Sydney, Australia.

出版信息

Biochem Biophys Res Commun. 1996 Jun 14;223(2):461-7. doi: 10.1006/bbrc.1996.0916.

Abstract

The gene for the stimulatory G protein-coupled human A2a adenosine receptor was isolated and sequence analysis revealed two exons that are interrupted by an intron of approximately 6.4 kb. An intron is located in the same region in the human A1 and A2b adenosine receptor genes. Comparison of the A2a genomic and cDNA sequences reveals two nucleotide differences in the coding region and the presence of an aberrant sequence in the 5'208 base pairs of the A2a cDNA including a polymorphism in the third base of codon Tyr-361 and Gly codon which was always detected at residue 392, indicated that the Arg codon present in the cDNA may be an artifact. Fluorescent in situ hybridization and PCR analysis of human-hamster hybrid cell panels shows that the A2a receptor gene is localized to chromosome 22q11.2. This is in contrast with previous reports (subsequently retracted) which mapped the A2a gene to chromosome 11q11-13.

摘要

分离出了刺激性G蛋白偶联的人A2a腺苷受体基因,序列分析显示有两个外显子,被一个约6.4 kb的内含子隔开。在人A1和A2b腺苷受体基因的相同区域也存在一个内含子。比较A2a基因组序列和cDNA序列发现,编码区有两个核苷酸差异,并且A2a cDNA的5'端208个碱基对中存在异常序列,包括密码子Tyr-361第三位的多态性以及在第392位总是检测到的甘氨酸密码子,这表明cDNA中存在的精氨酸密码子可能是人为造成的。对人-仓鼠杂交细胞系进行荧光原位杂交和PCR分析表明,A2a受体基因定位于22号染色体q11.2区。这与之前(随后撤回)将A2a基因定位于11号染色体q11-13的报道相反。

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